ClinVar Miner

Variants studied for mucolipidosis type III, alpha/beta

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
247 233 420 785 68 34 1644

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GNPTAB 219 185 273 752 58 20 1405
GNPTG 28 43 109 26 6 14 190
GNPTG, LOC130058158 0 5 33 7 0 0 40
GNPTG, UNKL 0 0 4 0 1 0 5
GNPTAB, LOC130008555 0 0 1 0 2 0 3
GNPTAB, LOC124646390 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 205 39 181 739 46 0 1210
Illumina Laboratory Services, Illumina 0 0 122 15 22 0 159
Natera, Inc. 5 2 84 15 6 0 112
Counsyl 18 41 47 0 0 0 106
Fulgent Genetics, Fulgent Genetics 21 48 18 6 0 0 93
Myriad Genetics, Inc. 2 72 1 0 0 0 75
Genome-Nilou Lab 6 3 21 16 14 0 60
GeneReviews 12 0 0 0 0 34 46
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 31 1 1 0 0 34
OMIM 17 0 0 0 0 0 17
Neuberg Centre For Genomic Medicine, NCGM 2 1 4 0 0 0 7
Revvity Omics, Revvity 2 1 1 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 0 3 0 0 0 0 3
3billion, Medical Genetics 2 0 1 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 0 1

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